{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T05:09:04Z","timestamp":1779253744196,"version":"3.51.4"},"reference-count":10,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:00:00Z","timestamp":1779235200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder that can present with stroke-like episodes, posing a significant diagnostic challenge. This difficulty is compounded when it coincides with intracranial atherosclerotic stenosis, a common cause of recurrent stroke.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We report the case of a 64-years-old woman without conventional vascular risk factors who presented with a recurrent acute focal neurological deficit\u2013her sixth similar episode over 8 years, each previously diagnosed as cerebral infarction. Brain magnetic resonance imaging (MRI) revealed a new area of restricted diffusion in the right frontoparietal region and an ipsilateral middle cerebral artery (MCA) M2 segment stenosis (&amp;gt;50%). Crucially, a systematic review of the diffusion-weighted imaging (DWI) sequences identified the pathognomonic linear hyperintensity along the corticomedullary junction, known as the \u201cribbon sign,\u201d which is highly suggestive of NIID. Despite a negative genetic test for the NOTCH2NLC GGC repeat expansion, the diagnosis was confirmed by a minimally invasive skin biopsy, which demonstrated characteristic non-membranous intranuclear inclusions on electron microscopy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We highlight the imperative to recognize this specific and pathognomonic neuroimaging pattern even in the presence of coincidental atherosclerosis. Furthermore, we detail the systematic diagnostic approach when genetic testing is unrevealing, emphasizing the pivotal role of targeted tissue biopsy in achieving a definitive diagnosis. This report underscores the key learning points in evaluating acute stroke mimics with atypical evolution.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2026.1838444","type":"journal-article","created":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T04:36:30Z","timestamp":1779251790000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Neuronal intranuclear inclusion disease mimicking recurrent stroke in the setting of intracranial stenosis"],"prefix":"10.3389","volume":"13","author":[{"given":"Jingmin","family":"Zhao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangxun","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lumei","family":"Chi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,5,20]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"3170","DOI":"10.1093\/brain\/aww249","article-title":"Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.","volume":"139","author":"Sone","year":"2016","journal-title":"Brain."},{"key":"B2","doi-asserted-by":"publisher","first-page":"3010","DOI":"10.1093\/brain\/awac135","article-title":"Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy.","volume":"145","author":"Liu","year":"2022","journal-title":"Brain."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1136\/jnnp-2022-329772","article-title":"Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease.","volume":"93","author":"Tian","year":"2022","journal-title":"J Neurol Neurosurg Psychiatry."},{"key":"B4","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1038\/s41588-019-0459-y","article-title":"Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.","volume":"51","author":"Sone","year":"2019","journal-title":"Nat Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"3373","DOI":"10.1093\/brain\/awad058","article-title":"GGC repeat expansion in NOTCH2NLC induces dysfunction in ribosome biogenesis and translation.","volume":"146","author":"Fan","year":"2023","journal-title":"Brain."},{"key":"B6","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1038\/s41431-025-01892-z","article-title":"Detection and characterization of rare variants in NOTCH2NLC causing false negative molecular diagnosis through long-read sequencing.","volume":"33","author":"Zheng","year":"2025","journal-title":"Eur J Hum Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"7","DOI":"10.5414\/NP301203","article-title":"Diagnostic indicators for adult-onset neuronal intranuclear inclusion disease.","volume":"39","author":"Wang","year":"2020","journal-title":"Clin Neuropathol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"868","DOI":"10.1038\/nature01323","article-title":"Inflammation in atherosclerosis.","volume":"420","author":"Libby","year":"2002","journal-title":"Nature."},{"key":"B9","doi-asserted-by":"publisher","first-page":"2988","DOI":"10.2174\/138161209789058093","article-title":"Oxidative stress, endothelial dysfunction and atherosclerosis.","volume":"15","author":"Victor","year":"2009","journal-title":"Curr Pharm Des."},{"key":"B10","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1016\/j.neuron.2017.07.030","article-title":"The neurovascular unit coming of age: a journey through neurovascular coupling in health and disease.","volume":"96","author":"Iadecola","year":"2017","journal-title":"Neuron."}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1838444\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T04:36:57Z","timestamp":1779251817000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1838444\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,20]]},"references-count":10,"alternative-id":["10.3389\/fmed.2026.1838444"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2026.1838444","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,20]]},"article-number":"1838444"}}